Early-life liver cirrhosis and variable clinical presentation in telomere disease

Yaniv Faingelernt, Raouf Nassar, Galina Ling, Yona Kodman, Tamar Feuerstein, Baruch Yerushalmi

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Aim: Telomeres are DNA sequences of tandem TTAGGG repeats that protect chromosome ends from degradation and instability. Constitutional loss-of-function telomerase mutations result in rapid telomere shortening, premature senescence and cell death. Liver cirrhosis is rare and has only been reported in adults. We present five family members of Bedouin-Muslim origin, all of which carry the same mutation, and yet demonstrate an extremely variable phenotypical presentation, including liver cirrhosis during early childhood. Methods: A multidisciplinary long-term follow-up of two healthy and three affected patients was analysed. The mutation (r.95G>C) was identified in all patients using Sanger sequencing. Telomere length samples were obtained and analysed. Results: Clinical phenotypes were extremely variable, including age at first symptoms, organ involvement, disease severity and patient prognosis. The most prominent clinical phenotype is liver involvement, including end-stage liver disease early in life, which affects three members of the family. Affected patients had markedly shorter telomeres. Conclusion: We describe an unusual presentation of early liver failure in telomere disease patients. Little, if any, is known about the association between the genotype and phenotype among children with telomere disease and whether the mutation we have described (r.95G>C) is predisposed to early severe hepatic involvement.

Original languageEnglish
Pages (from-to)2416-2421
Number of pages6
JournalActa Paediatrica, International Journal of Paediatrics
Issue number12
StatePublished - 1 Dec 2022


  • bone marrow failure
  • chronic recurrent multifocal osteomyelitis
  • hepatopulmonary syndrome
  • liver cirrhosis
  • telomere disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'Early-life liver cirrhosis and variable clinical presentation in telomere disease'. Together they form a unique fingerprint.

Cite this